Revel Score:
ENST00000261751 (MANE Select)
0.317
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07287084 (EAS)
Genomes Max Group AF
0.0790073 (EAS)
Exomes Max Group AF
0.07137946 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78629887T>C , CM000677.2:g.78629887T>C | GRCh38 |
| NC_000015.9:g.78922229T>C , CM000677.1:g.78922229T>C | GRCh37 |
| NC_000015.8:g.76709284T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261751.8:c.418A>G MANE Select | ENSP00000261751.3:p.Ser140Gly | |
| ENST00000261751.7:c.418A>G | ENSP00000261751.3:p.Ser140Gly | |
| ENST00000412074.6:c.359+1189A>G | ENSP00000416386.2:n.359+1189A>G | |
| ENST00000559849.5:c.*474A>G | ENSP00000457404.1:n.*474A>G | |
| NM_000750.3:c.418A>G | NP_000741.1:p.Ser140Gly | |
| NM_001256567.1:c.359+1189A>G | NP_001243496.1:n.359+1189A>G | |
| XM_011521181.1:c.601A>G | XP_011519483.1:p.Ser201Gly | |
| XM_011521182.1:c.601A>G | XP_011519484.1:p.Ser201Gly | |
| XM_011521183.1:c.601A>G | XP_011519485.1:p.Ser201Gly | |
| XM_011521184.1:c.601A>G | XP_011519486.1:p.Ser201Gly | |
| XM_011521185.1:c.601A>G | XP_011519487.1:p.Ser201Gly | |
| XM_011521186.1:c.409A>G | XP_011519488.1:p.Ser137Gly | |
| XM_011521187.1:c.409A>G | XP_011519489.1:p.Ser137Gly | |
| XM_011521188.1:c.328A>G | XP_011519490.1:p.Ser110Gly | |
| XM_011521189.1:c.253A>G | XP_011519491.1:p.Ser85Gly | |
| XM_011521190.1:c.196A>G | XP_011519492.1:p.Ser66Gly | |
| XM_011521191.1:c.196A>G | XP_011519493.1:p.Ser66Gly | |
| XM_011521192.1:c.-129A>G | XP_011519494.1:n.-129A>G | |
| XM_011521193.1:c.542+1189A>G | XP_011519495.1:n.542+1189A>G | |
| NM_000750.4:c.418A>G | NP_000741.1:p.Ser140Gly | |
| NM_001256567.2:c.359+1189A>G | NP_001243496.1:n.359+1189A>G | |
| XM_011521186.2:c.409A>G | XP_011519488.1:p.Ser137Gly | |
| XM_011521187.2:c.409A>G | XP_011519489.1:p.Ser137Gly | |
| XM_011521190.2:c.196A>G | XP_011519492.1:p.Ser66Gly | |
| XM_011521191.2:c.196A>G | XP_011519493.1:p.Ser66Gly | |
| XM_011521192.2:c.-129A>G | XP_011519494.1:n.-129A>G | |
| XM_017021885.1:c.328A>G | XP_016877374.1:p.Ser110Gly | |
| XM_017021886.1:c.328A>G | XP_016877375.1:p.Ser110Gly | |
| XM_017021887.1:c.418A>G | XP_016877376.1:p.Ser140Gly | |
| XM_017021888.1:c.418A>G | XP_016877377.1:p.Ser140Gly | |
| XM_017021889.2:c.418A>G | XP_016877378.1:p.Ser140Gly | |
| NM_000750.5:c.418A>G MANE Select | NP_000741.1:p.Ser140Gly | |
| NM_001256567.3:c.359+1189A>G | NP_001243496.1:n.359+1189A>G |